347 resultados para Enrique Bolanos


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L’objecte del present informe és la descripció dels treballs duts a terme en l’Activitat 2 del projecte E-MAN-RES: models de simulació i càlcul per optimització i anàlisi de sensibilitat de la gestió de la demanda, per part de la Universitat Politècnica de Catalunya.

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Informe final del projecte realitzat per al Centre de Cooperació per al Desenvolupament de la UPC.

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Informe final de la convocatòria de subvencions destinades a donar suport a projectes de sensibilització, educació, formació, capacitació i recerca en l’àmbit de cooperació al desenvolupament impulsats per determinats agents universitaris dins l’exercici 2008 (codi de convocatòria U2008)

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Projecte presentat al "Concurso Internacional de ideas para la ampliación del Parque del Alamillo, Sevilla"

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Background: Kabuki syndrome (KS) is a multiple congenital anomaly syndrome characterized by specific facial features, mild to moderate mental retardation, postnatal growth delay, skeletal abnormalities, and unusual dermatoglyphic patterns with prominent fingertip pads. A 3.5 Mb duplication at 8p23.1-p22 was once reported as a specific alteration in KS but has not been confirmed in other patients. The molecular basis of KS remains unknown. Methods: We have studied 16 Spanish patients with a clinical diagnosis of KS or KS-like to search for genomic imbalances using genome-wide array technologies. All putative rearrangements were confirmed by FISH, microsatellite markers and/or MLPA assays, which also determined whether the imbalance was de novo or inherited. Results: No duplication at 8p23.1-p22 was observed in our patients. We detected complex rearrangements involving 2q in two patients with Kabuki-like features: 1) a de novo inverted duplication of 11 Mb with a 4.5 Mb terminal deletion, and 2) a de novo 7.2 Mb-terminal deletion in a patient with an additional de novo 0.5 Mb interstitial deletion in 16p. Additional copy number variations (CNV), either inherited or reported in normal controls, were identified and interpreted as polymorphic variants. No specific CNV was significantly increased in the KS group. Conclusion: Our results further confirmed that genomic duplications of 8p23 region are not a common cause of KS and failed to detect other recurrent rearrangement causing this disorder. The detection of two patients with 2q37 deletions suggests that there is a phenotypic overlap between the two conditions, and screening this region in the Kabuki-like patients should be considered.

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Projecte presentat per al concurs d'ordenació urbana de l'entorn de la Colònia Güell

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Projecte presentat al concurs "La transformació urbana de la Ronda Barceló"

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Projecte presentat per al concurs de Creació d'un nou barri residencial (Les Grisettes) i del parc de Mas Nouguier

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